Anorectal Malformations

Anatomic Description

Anorectal malformations describe a spectrum of congenital anomalies that include imperforate

anus and persistent cloaca. Anorectal malformations occur in approximately 1 in 5000 live births
and affect males and females almost equally. The embryologic basis includes failure of descent
of the urorectal septum. The level to which this septum descends determines the type of anomaly
that is present, which subsequently influences the surgical approach.

In patients with imperforate anus, the rectum fails to descend through the external sphincter
complex. Instead, the rectal pouch ends blindly in the pelvis, above or below the levator ani
muscle. In most cases, the blind rectal pouch communicates more distally with the genitourinary
system or with the perineum through a fistulous tract. Traditionally, anatomic description of
imperforate anus has been characterized as either "high" or "low," depending on whether the
rectum ends above the levator ani muscle complex or partially descends through this muscle
(Fig. 38-24). Based upon this classification system, in male patients with high imperforate anus,
the rectum usually ends as a fistula into the membranous urethra. In females, high imperforate
anus often occurs in the context of a persistent cloaca. In both males and females, low lesions are
associated with a fistula to the perineum. In males, the fistula connects with the median raphe of
the scrotum or penis. In females, the fistula may end within the vestibule of the vagina, which is
located immediately outside the hymen, or at the perineum.

FIG. 38-24.

Low imperforate anus in a male. Note the well developed buttocks. The perineal fistula was
found at the midline raphe.

Because this classification system is somewhat arbitrary, Peña proposed a classification system
that specifically and unambiguously describes the location of the fistulous opening. In males the
fistula may communicate with: (1) the perineum (cutaneous perineal fistula); (2) the lowest
portion of the posterior urethra (rectourethral bulbar fistula); (3) the upper portion of the
posterior urethra (rectourethral prostatic fistula); or (4) the bladder neck (rectovesicular fistula).
In females, the urethra may open onto the perineum between the female genitalia and the center
of the sphincter (cutaneous perineal fistula), or into the vestibule of the vagina (vestibular fistula)
(Fig. 38-25). In both sexes, the rectum may end in a completely blind fashion (imperforate anus
without fistula). In rare cases, patients may have a normal anal canal, yet there may be total
atresia or severe stenosis of the rectum.

FIG. 38-25.

Imperforate anus in a female. A catheter has been placed into the fistula, which is in the
vestibule of the vagina.

The most frequent defect in males is imperforate anus with rectourethral fistula, followed by
rectoperineal fistula, then rectovesical fistula or recto–bladder neck. In females, the most
frequent defect is the rectovestibular defect, followed by the cutaneous perineal fistula. The third
most common defect in females is the persistent cloaca. This lesion represents a wide spectrum
of malformations in which the rectum, vagina, and urinary tract meet and fuse into a single
common channel. On physical examination, a single perineal orifice is observed, and is located
at the place where the urethra normally opens. Typically, the external genitalia are hypoplastic.

Associated Malformations

Approximately 60% of patients have an associated malformation. The most common is a urinary
tract defect, which occurs in approximately 50% of patients. Skeletal defects also are seen, and
the sacrum is most commonly involved. Spinal cord anomalies, especially a tethered cord, are
common, particularly in children with high lesions. Gastrointestinal anomalies occur, most
commonly esophageal atresia. Cardiac anomalies may be noted, and occasionally patients
present with a constellation of defects as part of the VACTERRL syndrome (vertebral [missing
vertebra] and anorectal anomalies, cardiac defects [severe congenital cardiac disease],
tracheoesophageal fistula, renal anomalies [renal agenesis and renal anomalies], and radial limb
hyperplasia).

Management of Patients with Imperforate Anus

Patients with imperforate anus are usually stable, and the diagnosis is readily apparent. Despite
the obstruction, the abdomen is initially not distended, and there is rarely any urgency to
intervene. The principles of management center around diagnosing the type of defect that is
present (high versus low), and evaluating the presence of associated anomalies. It may take up to
24 hours before the presence of a fistula on the skin is noted, and thus it is important to observe
the neonate for some time before definitive surgery is undertaken. All patients should therefore
have an orogastric tube placed and be monitored for the appearance of meconium in or around
the perineum, or in the urine. Investigation for associated defects should include an ultrasound of
the abdomen to assess for the presence of urinary tract anomalies. Other tests should include an
echocardiogram and spinal radiographs. An ultrasound of the spine should be performed to look
for the presence of a tethered cord. To further classify the location of the fistula as either high or
low, a lateral abdominal radiograph can be obtained with a radiopaque marker on the perineum.
By placing the infant in the inverted position, the distance between the most distal extent of air in
the rectum and the perineal surface can be measured. However, this study is imprecise.

The surgical management of infants with imperforate anus is determined by the anatomic defect.
In general, when a low lesion is present, only a perineal operation is required, without a
colostomy. Infants with a high lesion require a colostomy in the newborn period, followed by a
pull-through procedure at approximately 2 months of age. When a persistent cloaca is present,
the urinary tract needs to be carefully evaluated at the time of colostomy formation to ensure that
normal emptying can occur, and to determine whether the bladder needs to be drained by means
of a vesicostomy. If there is any doubt about the type of lesion, it is safer to perform a colostomy
rather than jeopardize the infant's long-term chances for continence by performing an injudicious
perineal operation.

The type of pull-through procedure favored by most pediatric surgeons today is the posterior
sagittal anorectoplasty (PSARP) procedure, as described by Peña and DeVries. This involves
dividing the levator ani and external sphincter complex in the midline posteriorly, and bringing
down the rectum after sufficient length is achieved. The muscles are then reconstructed and
sutured to the rectum. The outcome of 1192 patients who had undergone this procedure was
recently reviewed by Peña and Hong. Seventy-five percent of patients were found to have
voluntary bowel movements, and nearly 40% were considered totally continent. As a rule,
patients with high lesions demonstrate an increased incidence of incontinence, whereas those
with low lesions are more likely to be constipated.

Schwartz’s Principles of Surgery

Imperforate Anus

The spectrum of anorectal malformations ranges from simple anal stenosis to the persistence of a
cloaca; incidence ranges from 1 in 4000 to 5000 live births and is slightly more common in boys.
The most common defect is an imperforate anus with a fistula between the distal colon and the
urethra in boys or the vestibule of the vagina in girls.

Anorectal Embryology

By 6 weeks of gestation, the urorectal septum moves caudally to divide the cloaca into the
anterior urogenital sinus and posterior anorectal canal. Failure of this septum to form results in a
fistula between the bowel and urinary tract (in boys) or the vagina (in girls). Complete or partial
failure of the anal membrane to resorb results in an anal membrane or stenosis. The perineum
also contributes to development of the external anal opening and genitalia by formation of
cloacal folds, which extend from the anterior genital tubercle to the anus. The perineal body is
formed by fusion of the cloacal folds between the anal and urogenital membranes. Breakdown of
the cloacal membrane anywhere along its course results in the external anal opening being
anterior to the external sphincter (i.e., anteriorly displaced anus).

Classification of Anorectal Anomalies

An anatomic classification of anorectal anomalies is based on the level at which the blind-ending
rectal pouch ends in relationship to the levator ani musculature ( Table 71-3 ). Historically, the
level of the end of the rectal pouch was determined by obtaining a lateral pelvic radiograph (i.e.,
invertogram) after the infant is held upside-down for several minutes to allow air to pass into the
rectal pouch. This examination is very subjective and no longer used. Inspection of the perineum
alone determines the pouch level in 80% of boys and 90% of girls. Clinically, if an anocutaneus
fistula is seen anywhere on the perineal skin of a boy or external to the hymen of a girl, a low
lesion can be assumed, which allows a primary perineal repair procedure to be performed,
without the need for a stoma. Most other lesions are high or intermediate, and they require
proximal diversion by a sigmoid colostomy. This is followed by a definitive repair procedure at a
later date. If required, the level of the rectal pouch can be detailed more definitively by
ultrasonography or MRI.

Table 71-3 -- Classification of Congenital Anomalies of the Anorectum

Female
High Anorectal agenesis with or without rectovaginal fistula
Rectal atresia
Intermediate Anorectal agenesis with or without rectovaginal fistula
Anal agenesis
Low Anovestibular or anocutaneous fistula (anteriorly displaced anus)
Anal stenosis
Cloaca
Male
High Anorectal agenesis with or without rectoprostatic urethral fistula
Rectal atresia
Intermediate Anorectal agenesis with or without rectobulbar urethral fistula
Anal agenesis
Low Anocutaneous fistula (anteriorly displaced anus)
Anal stenosis

Rectal atresia refers to an unusual lesion in which the lumen of the rectum is either completely or
partially interrupted, with the upper rectum being dilated and the lower rectum consisting of a
small anal canal. A persistent cloaca is defined as a defect in which the rectum, vagina, and
urethra all meet and fuse to form a single, common channel. In girls, the type of defect may be
determined by the number of orifices at the perineum. A single orifice would be consistent with a
cloaca. If two orifices are seen (i.e., urethra and vagina), the defect represents either a high
imperforate anus or, less commonly, a persistent urogenital sinus comprising one orifice and a
normal anus as the other orifice.

Associated Anomalies

Congenital anorectal anomalies often coexist with other lesions, and the VATER or VACTERL
association must be considered. Bony abnormalities of the sacrum and spine occur in about one
third of patients and consist of absent, accessory, or hemivertebrae or an asymmetric or short
sacrum. Absence of two or more vertebrae is associated with a poor prognosis for bowel and
bladder continence. Occult dysraphism of the spinal cord also may be present and consists of
tethered cord, lipomeningocele, or fat within the filum terminale.

Preoperative Evaluation

Clinical evaluation includes plain radiographs of the spine as well as an ultrasound of the spinal
cord. Genitourinary abnormalities other than the rectourinary fistula occur in 26% to 59% of
patients. Vesicoureteral reflux and hydronephrosis are the most common, but other findings such
as horseshoe, dysplastic, or absent kidney, as well as hypospadias or cryptorchidism, also must
be considered. In general, the higher the anorectal malformation, the greater the frequency of
associated urologic abnormalities. In patients with a persistent cloaca or rectovesical fistula, the
likelihood of a genitourinary abnormality is about 90%. In contrast, the frequency is only 10% in
children with low defects (i.e., perineal fistula). Radiographic evaluation of the urinary tract
includes renal ultrasonography and voiding cystourethrography; a rectourinary fistula (if present)
likely will be demonstrated by the latter procedure.

In addition to the other tests described previously, a plain chest radiograph and careful clinical
evaluation of the heart are conducted. If a cardiac defect is suspected, echocardiography is
performed before any surgical procedure. Before feeding, a nasogastric tube is placed and its
presence within the stomach confirmed to exclude esophageal atresia.

Low Lesions

The newborn infant with a low lesion can have a primary, single-stage repair procedure without
need for a colostomy. Three basic approaches may be used. For anal stenosis in which the anal
opening is in a normal location, serial dilation alone is usually curative. Dilations are performed
daily by the caretaker, and the size of the dilator is increased progressively (beginning with 8-9
French and increased slowly to 14 to 16 French). If the anal opening is anterior to the external
sphincter (i.e., anteriorly displaced anus) with a small distance between the opening and the
center of the external sphincter, and the perineal body is intact, a cutback anoplasty is performed.
This consists of an incision extending from the ectopic anal orifice to the central part of the anal
sphincter, thus enlarging the anal opening. Alternatively, if there is a large distance between the
anal opening and the central portion of the external anal sphincter, a transposition anoplasty is
performed in which the aberrant anal opening is transposed to the normal position within the
center of the sphincter muscles, and the perineal body is reconstructed.

High or Intermediate Lesions

Infants with intermediate or high lesions traditionally require a colostomy as the first part of a
three-stage reconstruction. The colon is completely divided in the sigmoid region, with the
proximal bowel as the colostomy and the distal bowel as a mucous fistula. Complete division of
the bowel minimizes fecal contamination into the area of a rectourinary fistula, and it may lessen
the risk for urosepsis. Furthermore, the distal bowel can be evaluated radiographically to
determine the location of the rectourinary fistula. The second-stage procedure usually is
performed 3 to 6 months later and consists of surgically dividing the rectourinary or rectovaginal
fistula with pull-through of the terminal rectal pouch into the normal anal position. A posterior
sagittal approach as championed by Peñ±a is the procedure most frequently performed.[28] This
consists of determination of the location of the central position of the anal sphincter by electrical
stimulation of the perineum. An incision is then made in the midline extending from the coccyx
to the anterior perineum and through the sphincter and levator musculature until the rectum is
identified. The fistula from the rectum to the vagina or urinary tract is divided. The rectum is
then mobilized and the perineal musculature reconstructed. The third and final stage is closure of
the colostomy, which is performed a few months later. Anal dilations are begun 2 weeks after the
pull-through procedure and continue for several months after the colostomy closure.

More recently, a single-stage procedure using a transabdominal laparoscopic approach has been
described for treatment of intermediate and high imperforate anus anomalies.[29] This technique
offers the theoretic advantages of placement of the neorectum within the central position of the
sphincter and levator muscle complex under direct vision and avoids the need to cut across these
structures. The long-term outcome of this new approach when compared with the standard
posterior sagittal method is presently unknown.

Most of the morbidity in patients with anorectal malformations is related to the presence of
associated anomalies. Fecal continence is the major goal regarding correction of the defect.
Prognostic factors for continence include the level of the pouch and whether the sacrum is
normal. Globally, 75% of patients have voluntary bowel movements. Half of this group still soil
their underwear occasionally while the other half are considered totally continent.[30]
Constipation is the most common sequela. A bowel management program consisting of daily
enemas is an important postoperative plan to reduce the frequency of soilage and improve the
quality of life for these patients.

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Sabiston

Anorectal anomalies
Classification system (Am J Surg 2000;180:370):

• Males: perineal fistula, rectourethral bulbar fistula, rectourethral prostatic fistula,

rectovesical (bladder neck) fistula, imperforate anus without fistula, rectal atresia and
stenosis.
• Females: perineal fistula, vestibular fistula, imperforate anus with no fistula, rectal atresia
and stenosis, persistent cloaca.
• The lesions may also be classified as low, intermediate, or high depending on whether the
atresia is below, at the level of, or above the puborectalis sling, respectively.

P.554

• Diagnosis
 o Physical examination.
o Plain radiographs: obstructive series, invertogram, sacral abnormalities.
o Contrast studies: mucous fistulogram.
o Magnetic resonance.
• Management
o Define associated defects.
 VACTERL syndromes.
 Cardiovascular anomalies occur in conjunction with anorectal
malformations 12% to 22% of the time.
o Inspection of the perineum is required to help distinguish the type of defect. The
presence of meconium on the perineum within 24 hours of birth may signify a
perineal fistula (low defect), which may be safely repaired without a colostomy.
o A high defect with probable rectourethral or rectovaginal fistula requires a
colostomy and mucous fistula for initial management.
o If the anatomy is unclear, lateral radiographs of the pelvis with the infant in a
prone position can be obtained.
• Definitive operative repair

The main goal of caring for a baby with an anorectal malformation is bowel and urinary
continence. For perineal fistulas, primary repair may be performed without a protective
colostomy. For the more complex anorectal anomalies, a three-step methodology is
advocated with a diverting colostomy after birth, posterior sagittal anorectoplasty
(PSARP), and colostomy closure. Of note, laparoscopic management of anorectal
anomalies has been performed.

Washington Manual